Variant report

Variant	nsv608348
Chromosome Location	chr7:125314659-125410845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125310080..125313010-chr7:125315945..125318441,2	K562	blood:
2	chr7:125384743..125387377-chr7:125395816..125398229,2	K562	blood:
3	chr7:125385463..125387105-chr7:125388625..125390168,2	K562	blood:
4	chr7:125385605..125387936-chr7:125388625..125390972,2	K562	blood:
5	chr7:125369632..125371193-chr7:125372789..125375510,2	K562	blood:
6	chr7:125392984..125395323-chr7:125485232..125486912,2	K562	blood:
7	chr7:125384743..125387377-chr7:125395816..125398229,2	K562	blood:
8	chr7:125391124..125394118-chr7:125397604..125400061,2	K562	blood:
9	chr7:125325822..125328394-chr7:125330208..125331998,2	K562	blood:
10	chr7:125338629..125340672-chr7:125343129..125344648,2	K562	blood:
11	chr7:125385605..125387936-chr7:125388625..125390972,2	K562	blood:
12	chr7:125369632..125371193-chr7:125372789..125375510,2	K562	blood:
13	chr7:125338629..125340672-chr7:125343129..125344648,2	K562	blood:
14	chr7:125385463..125387105-chr7:125388625..125390168,2	K562	blood:
15	chr7:125391124..125394118-chr7:125397604..125400061,2	K562	blood:
16	chr7:125325822..125328394-chr7:125330208..125331998,2	K562	blood:

No data

Extended variants
information (count: 519 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1362128	chr7:125314659-125314660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565161591	chr7:125314675-125314676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532634377	chr7:125314700-125314701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73440068	chr7:125314712-125314713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78838611	chr7:125314724-125314725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140790581	chr7:125314784-125314785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531011477	chr7:125314829-125314830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548870491	chr7:125314848-125314849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570376869	chr7:125314850-125314851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537374174	chr7:125314923-125314924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556124091	chr7:125314942-125314943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143203888	chr7:125314973-125314974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553454312	chr7:125314990-125314991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567642628	chr7:125314991-125314992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76736900	chr7:125315040-125315041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181417337	chr7:125315067-125315068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183707745	chr7:125315091-125315092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576263287	chr7:125315097-125315098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543398720	chr7:125315112-125315113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188472437	chr7:125315123-125315124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148267404	chr7:125315150-125315151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73722068	chr7:125315180-125315181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12666193	chr7:125315182-125315183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs565954003	chr7:125315204-125315205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140323087	chr7:125315251-125315252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548782394	chr7:125315285-125315286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1989954	chr7:125315286-125315287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs180906647	chr7:125315319-125315320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117824037	chr7:125315349-125315350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12668761	chr7:125315386-125315387	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150338890	chr7:125315438-125315439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555461067	chr7:125315439-125315440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531703271	chr7:125315455-125315456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571794429	chr7:125315468-125315469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59413509	chr7:125315527-125315528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537835941	chr7:125315528-125315529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10273027	chr7:125315570-125315571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556738800	chr7:125315592-125315593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554339325	chr7:125315598-125315599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186289718	chr7:125315599-125315600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191117555	chr7:125315607-125315608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138807437	chr7:125315620-125315621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577138649	chr7:125315621-125315622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541450776	chr7:125315640-125315641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143157786	chr7:125315643-125315644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181661056	chr7:125315666-125315667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368631516	chr7:125315692-125315693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542385070	chr7:125315705-125315706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115243565	chr7:125315728-125315729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531018226	chr7:125315798-125315799	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125311200-125314800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:125314800-125315800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:125315000-125316200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:125315800-125316200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:125316200-125316400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:125318200-125318800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:125318800-125323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:125322600-125323200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:125323000-125323400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:125323000-125323600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:125323200-125323600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:125323400-125324000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:125326800-125327200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:125335800-125336600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:125337200-125337600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:125337200-125337600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:125337400-125337600	Enhancers	K562	blood
18	chr7:125338200-125338400	Enhancers	K562	blood
19	chr7:125385800-125386200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr7:125387400-125388400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:125388400-125390200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:125390000-125390400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:125390200-125390600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:125390200-125390800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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